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rs9858542

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.3 1.8x risk
(A;G) 1.2 1.1x risk Crohn's Disease
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome3
Position49664550
GeneBSN
is asnp
is mentioned by
dbSNPrs9858542
ebirs9858542
HLIrs9858542
Exacrs9858542
Varsomers9858542
Maprs9858542
PheGenIrs9858542
hapmaprs9858542
1000 genomesrs9858542
hgdprs9858542
ensemblrs9858542
gopubmedrs9858542
geneviewrs9858542
scholarrs9858542
googlers9858542
pharmgkbrs9858542
gwascentralrs9858542
openSNPrs9858542
23andMers9858542
23andMe allrs9858542
SNP Nexus

SNPshotrs9858542
SNPdbers9858542
MSV3drs9858542
GWAS Ctlgrs9858542
GMAF0.2199
Max Magnitude1.3
? (A;A) (A;G) (G;G) 28
rs9858542 has been reported in a large study to be associated with Crohn's disease.

The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.09 (CI 0.96-1.24), and for homozygotes, 1.84 (CI 1.49-2.26). [PMID 17554300OA-icon.png]

GWAS
SNP rs9858542
PubMedID [PMID 17554261OA-icon.png]
Condition Crohn's disease
Gene MST1
Risk Allele
pValue 5.00E-008
OR 1.17
95% CI 1.14-1.31


OMIM612241
DescINFLAMMATORY BOWEL DISEASE 12; IBD12
Variant
Relatedalso


[PMID 20024904] Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with inflammatory bowel disease

GWAS snp
PMID [PMID 19915572OA-icon.png]
Trait Ulcerative colitis
Title Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region
Risk Allele
P-val 7E-9
Odds Ratio NR NR

[PMID 19657358] Effect of BSN-MST1 locus on inflammatory bowel disease and multiple sclerosis susceptibility



[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.


[PMID 18438406OA-icon.png] Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.


[PMID 18533027OA-icon.png] Worldwide population differentiation at disease-associated SNPs.


[PMID 18853133OA-icon.png] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.


[PMID 19140132OA-icon.png] Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.


[PMID 20369022OA-icon.png] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.


GET Evidence
rs9858542
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.280071
summary